Relevant bibliographies by topics / Autosomal recessive disorder

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Autosomal recessive disorder'

Author: Grafiati
Published: 4 June 2021
Last updated: 17 June 2025

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Journal articles on the topic "Autosomal recessive disorder"

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Hayashi, Takashi, Tadashi Kaju, and Eli Shahar. "Autosomal recessive startle disorder." Acta Paediatrica 82, no. 1 (1993): 124. http://dx.doi.org/10.1111/j.1651-2227.1993.tb12540.x.

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Beighton, Peter, James Davidson, Lecia Durr, and Herman Hamersma. "Sclerosteosis - An autosomal recessive disorder." Clinical Genetics 11, no. 1 (2008): 1–7. http://dx.doi.org/10.1111/j.1399-0004.1977.tb01269.x.

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Mokhtar, M. M., S. M. Kotb, and S. R. Ismail. "Autosomal recessive disorders among patients attending the genetics clinic in Alexandria." Eastern Mediterranean Health Journal 4, no. 3 (1998): 470–79. http://dx.doi.org/10.26719/1998.4.3.470.

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A total of 660 patients referred to the genetics clinic, Medical Research Institute, Alexandria were assessed to determine the frequency of genetic disorders and the proportion of autosomal recessive disorders. It was found that 298 [45.2%] patients had genetic disorders, 100 [33.6%] of whom had an autosomal recessive disorder;these included 32 patients with metabolic defects, 18 with haemoglobinopathies and 50 with syndromes and single defects. The frequency of consanguinity among parents of patients with autosomal recessive disorders was high [60%, with 48% first cousins]. The average inbree
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Hogewind, Barend L., Peter Brummelen, and Jan J. Veltkamp. "Bartter's Syndrome: an Autosomal Recessive Disorder?" Acta Medica Scandinavica 209, no. 1-6 (2009): 463–67. http://dx.doi.org/10.1111/j.0954-6820.1981.tb11630.x.

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Bateman, J. Bronwyn, Thomas H. Pettit, Sherwin J. Isenberg, and Kenneth B. Simons. "Ligneous Conjunctivitis: An Autosomal Recessive Disorder." Journal of Pediatric Ophthalmology & Strabismus 23, no. 3 (1986): 137–40. http://dx.doi.org/10.3928/0191-3913-19860501-09.

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Sanders, SS. "ZFP57mutations cause an autosomal recessive imprinting disorder." Clinical Genetics 75, no. 4 (2009): 320–21. http://dx.doi.org/10.1111/j.1399-0004.2009.01171_3.x.

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Morris-Rosendahl, Deborah, Angela Kaindl, and Sami Zaqout. "Autosomal Recessive Primary Microcephaly (MCPH): An Update." Neuropediatrics 48, no. 03 (2017): 135–42. http://dx.doi.org/10.1055/s-0037-1601448.

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AbstractAutosomal recessive primary microcephaly (MCPH; MicroCephaly Primary Hereditary) is a genetically heterogeneous neurodevelopmental disorder characterized by a significantly reduced head circumference present already at birth and intellectual disability. Inconsistent features include hyperactivity, an expressive speech disorder, and epilepsy. Here, we provide a brief overview on this rare disorder pertinent for clinicians.
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Ohishi, Masamichi, Sadako Kai, Satoru Ozeki, and Hideo Tashiro. "Alveolar synechia, ankyloblepharon, and ectodermal disorders: An autosomal recessive disorder?" American Journal of Medical Genetics 38, no. 1 (1991): 13–15. http://dx.doi.org/10.1002/ajmg.1320380104.

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Bastioli, Guendalina, Maria Regoni, Federico Cazzaniga, et al. "Animal Models of Autosomal Recessive Parkinsonism." Biomedicines 9, no. 7 (2021): 812. http://dx.doi.org/10.3390/biomedicines9070812.

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Parkinson’s disease (PD) is the most common neurodegenerative movement disorder. The neuropathological hallmark of the disease is the loss of dopamine neurons of the substantia nigra pars compacta. The clinical manifestations of PD are bradykinesia, rigidity, resting tremors and postural instability. PD patients often display non-motor symptoms such as depression, anxiety, weakness, sleep disturbances and cognitive disorders. Although, in 90% of cases, PD has a sporadic onset of unknown etiology, highly penetrant rare genetic mutations in many genes have been linked with typical familial PD. U
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Al-Alami, Jamil. "Study of Undelineated Autosomal Recessive Disorder among Arabs." Qatar Foundation Annual Research Forum Proceedings, no. 2011 (November 2011): BMP66. http://dx.doi.org/10.5339/qfarf.2011.bmp66.

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Dissertations / Theses on the topic "Autosomal recessive disorder"

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Dahlqvist, Johanna. "Genetic and Molecular Studies of Two Hereditary Skin Disorders." Doctoral thesis, Uppsala universitet, Institutionen för immunologi, genetik och patologi, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-149185.

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Monogenic disorders, i.e., disorders caused by mutations in a single gene, are rare and clinically heterogeneous conditions. Identification of the genetic cause of monogenic traits can bring new insights into molecular pathways and disease mechanisms. The aims of the present study were to identify the mutant genes in two autosomal recessive skin disorders and to characterize the functions of the mutated genes.  In order to identify candidate genes for the two disorders whole-genome SNP analysis, homozygosity mapping and gene sequencing were used. Autosomal recessive congenital ichthyosis (ARCI
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Kurian, Manju Ann. "Molecular genetic investigation of autosomal recessive neurodevelopmental disorders." Thesis, University of Birmingham, 2010. http://etheses.bham.ac.uk//id/eprint/1126/.

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Development of the human brain occurs in a number of complex pre- and postnatal stages which are governed by both genetic and environmental factors. Aberrant brain development due to inherited defects may result in a wide spectrum of neurological disorders which are commonly encountered in the clinical field of paediatric neurology. In the work for this thesis, I have investigated the molecular basis and defined the clinical features of three autosomal recessive neurological syndromes. I studied a cohort of children with early onset epileptic encephalopathy and, in one family, identified a nov
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Alsaedi, Atif Saud. "Exome sequencing analysis of rare autosomal recessive disorders." Thesis, University of Birmingham, 2017. http://etheses.bham.ac.uk//id/eprint/7700/.

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Since the human genome project was completed in 2003, extraordinary progress has been made in the field of genomics with the development of new sequencing technologies and the widespread introduction of next generation sequencing (NGS). The application of NGS initiated a new era in genomics by massively increasing the number and diversity of the sequenced genomes at lower cost. Human Molecular Genetics has greatly benefited from the use of NGS-based strategies to identify human disease genes. In this thesis, I investigated the application of genetic techniques to investigate the molecular basi
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Bochukova, Elena G. "Expression of Wilson's disease genomic locus." Thesis, University of Oxford, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.275361.

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Alrayes, Nuha Mohammad. "Mutation analysis of autosomal recessive neurological disorders in consanguineous families from Saudi Arabia." Thesis, St George's, University of London, 2017. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.719148.

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The focus of this research project is the fundamentally important discovery of genetic mutations present in the Saudi Arabian population, concentrating mainly on offspring with neurological autosomal recessive disorders resulting from consanguineous marriages. The objective is to identify pathogenic gene variantsin known, novel, and potential candidate genes. In this research, microarrays were used for genome-wide homozygosity mapping to locate regions of homozygosity. This technique was followed with whole-exome sequencing to identify the causative gene located within the detected homozygous
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Gauthier, Sandra. "Les maladies autosomales recessives au Saguenay-Lac-St-Jean : étude de la consanguinité et de la parenté /." Thèse, Québec : Université Laval, 1992. http://theses.uqac.ca.

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Mémoire (M.Sc.)-- Université du Québec à Chicoutimi, 1992.<br>Ce mémoire a été réalisé à l'UQAC dans le cadre du programme de maîtrise en médecine expérimentale (volet génétique) extensionné de l'Université Laval à l'UQAC. CaQCU Bibliogr.: f. 66-69. Document électronique également access. CaQCU
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Elbaghir, Omer Elsayed Liena. "Hereditary spastic paraplegias : clinical spectrum in Sudan, further deciphering of the molecular bases of autosomal recessive forms and new genes emerging." Thesis, Paris 6, 2016. http://www.theses.fr/2016PA066056/document.

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Les paraplégies spastiques héréditaires (PSH) font partie d’un groupe plus large de pathologies neurodégénératives associant une spasticité. J’ai exploré la variabilité clinique et moléculaire de ces pathologies à l’aide d’une cohorte de familles soudanaises. Nous avons recruté 41 familles soudanaises [337 individus/106 atteints de PSH]. J’ai extrait l’ADN génomique et constitué une banque. Le criblage de gènes candidats a été réalisé dans 4 familles en fonction du phénotype des patients. La technologie de séquençage de nouvelle génération (SNG) appliquée à 74 gènes de PSH a ensuite été appliq
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Chin, Kun-Ming, and 金坤明. "The family experience of children with newly diagnosed autosomal recessive inherited disorder: from maternal perspective." Thesis, 2009. http://ndltd.ncl.edu.tw/handle/33t9kz.

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碩士<br>國立陽明大學<br>臨床暨社區護理研究所<br>97<br>Based on the family systematic theory, the purpose of this study is using maternal perspective to investigate the essence structure of the family experience of newly diagnosed single gene inherited disorder child. Purposive sampling was used to invited the participants. Employ phenomenology method (Colazzi, 1978) and carry on data collect from one medical center in Taipei from January 2007 to September 2007. Ten participants were selected based on the following criteria: the family having a child with newly diagnosed autosomal recessive inherited disorder in
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Haw, Tabitha. "FANCG 637-643 deletion mutation: frequency in black patients with acute myeloid leukaemia or aplastic anaemia and the clinical phenotype of homozygotes." Thesis, 2006. http://hdl.handle.net/10539/1881.

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Student Number : 9807768F - MSc (Med) research report - Faculty of Health Sciences<br>Fanconi anaemia (FA) is an autosomal recessive disorder characterised by aplastic anaemia (AA) and a high risk of developing acute myeloid leukaemia (AML). It is unknown whether heterozygote carriers are also predisposed to developing these disorders. The black South African population group is ideal for FA mutation screening because the presence of a founder mutation, FANCG 637-643, makes screening relatively straight forward. Three individuals with AML (115 screened) and one with AA (78 screened) wer
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Darr, Aliya, Neil A. Small, Waqar I.-U. Ahmad, K. Atkin, P. C. Corry, and B. Modell. "Addressing key issues in the consanguinity-related risk of autosomal recessive disorders in consanguineous communities: lessons from a qualitative study of British Pakistanis." 2015. http://hdl.handle.net/10454/10067.

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Yes<br>Currently there is no consensus regarding services required to help families with consanguineous marriages manage their increased genetic reproductive risk. Genetic services for communities with a preference for consanguineous marriage in the UK remain patchy, often poor. Receiving two disparate explanations of the cause of recessive disorders (cousin marriage and recessive inheritance) leads to confusion among families. Further, the realisation that couples in non-consanguineous relationships have affected children leads to mistrust of professional advice. British Pakistani famili
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Books on the topic "Autosomal recessive disorder"

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McKusick, Victor A. Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. 9th ed. Johns Hopkins University Press, 1990.

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Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and x-linked phenotypes. 7th ed. Johns Hopkins University Press, 1986.

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A, Francomano Clair, and Antonarakis Stylianos E, eds. Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. Johns Hopkins University Press, 1992.

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Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. 8th ed. Johns Hopkins University Press, 1988.

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Shakkottai, Vikram G. Ataxias. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0014.

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Autosomal recessive cerebellar ataxias are a group of inherited neurological disorders with progressive balance and gait difficulties. In these disorders, cerebellar ataxia is often accompanied by eye movement abnormalities and peripheral nervous system involvement. A unifying mechanism for disease pathogenesis that is common to all the recessive ataxias likely does not exist. Nevertheless, some pathophysiological pathways are common to several autosomal recessive cerebellar ataxias. Specific gene defects in each disorder are summarized in the chapter. The most common recessively inherited ata
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Foggensteiner, Lukas, and Philip Beales. Bardet–Biedl syndrome and other ciliopathies. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0314.

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Ciliopathies encompass a genotypically complex and phenotypically variable and overlapping series of disorders that makes the general term ‘ciliopathies’ very useful. The genes behind these conditions encode parts of the machinery of the primary cilium. This is also true of the major cystic kidney disorders autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease, but the ‘long tails’ of other ciliopathies are characterized by variable nephropathy (often without cyst formation), retinopathy, and effects on brain and skeletal development. Not all have subst
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Sayer, John A. Nephronophthisis and medullary cystic kidney disease. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0316_update_001.

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The inherited cystic kidney conditions nephronophthisis (NPHP) and medullary cystic kidney disease (MCKD) have previously been referred to as a NPHP–MCKD complex. This descriptive term was based on histological studies where the renal pathological features were common to both disorders. Both conditions may also present with insidious renal impairment and a urine concentrating defect, but they are genetically distinct. NPHP is an autosomal recessive disorder leading to established renal failure usually within the first three decades of life, and it is a ciliopathy. In contrast, MCKD is an autos
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Keshav, Satish, and Palak Trivedi. Genetic liver disease. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0214.

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This chapter discusses three of the major inherited forms of liver disease (all autosomal recessive): hereditary haemochromatosis, Wilson’s disease, and alpha-1-antitrypsin deficiency. Hereditary haemochromatosis is characterized by excessive absorption of dietary iron, with a pathological increase in total body iron that accumulates in tissues and organs, disrupting their function. Wilson’s disease (hepatolenticular degeneration) is an autosomal recessive genetic disorder in which copper accumulates in tissues. Alpha-1-antitrypsin deficiency is characterized by reduced circulating levels of a
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Fox, Susan H. Seizures and Shakes. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190607555.003.0017.

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Wilson’s disease is an autosomal recessive, treatable heredodegenerative disorder characterized by excessive deposition of copper in the liver, brain, and other tissues including the kidneys, pancreas, and joints. Early recognition of the disorder, which can present with a variety of movement disorders and neuropsychiatric phenomena, is critical to avoid irreversible end organ damage through the initiation of copper chelating agents. Diagnosis relies first on demonstrating evidence of brain iron deposition on magnetic resonance imaging of brain and elevated urinary copper excretion in the appr
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Bright-Thomas, Rowland J., and Andrew M. Jones. Cystic fibrosis. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0132.

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Cystic fibrosis is the most common lethal autosomal recessive disorder in Caucasians. There is no known survival advantage of the heterozygote carrier state. Chronic progressive pulmonary infection and bronchiectasis are the major causes of morbidity and mortality. The disease affects all ductal systems where the basic defect is manifest, including the pancreas, gastrointestinal tract, sinuses, hepatobiliary system, and male reproductive system, and has significant effects on nutrition and growth.
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Book chapters on the topic "Autosomal recessive disorder"

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Beaudin, Marie, and Nicolas Dupré. "Autosomal Recessive Ataxias." In Essentials of Cerebellum and Cerebellar Disorders. Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-24551-5_73.

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Noreau, Anne, Nicolas Dupré, Jean-Pierre Bouchard, Patrick A. Dion, and Guy A. Rouleau. "Autosomal Recessive Cerebellar Ataxias." In Handbook of the Cerebellum and Cerebellar Disorders. Springer Netherlands, 2013. http://dx.doi.org/10.1007/978-94-007-1333-8_100.

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Haj Salem, Ikhlass, Anne Noreau, Jean-Pierre Bouchard, Patrick A. Dion, Guy A. Rouleau, and Nicolas Dupré. "Autosomal Recessive Cerebellar Ataxias." In Handbook of the Cerebellum and Cerebellar Disorders. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-319-97911-3_100-2.

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Claeys, Kristl G., Martin Lammens, Jan Senderek, and Joachim Weis. "Autosomal recessive demyelinating or axonal Charcot-Marie-Tooth neuropathy." In Peripheral nerve disorders. John Wiley & Sons, Ltd, 2014. http://dx.doi.org/10.1002/9781118618424.ch11.

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Heutink, P. "PINK-1 and DJ-1 — new genes for autosomal recessive Parkinson’s disease." In Parkinson’s Disease and Related Disorders. Springer Vienna, 2006. http://dx.doi.org/10.1007/978-3-211-45295-0_33.

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Milone, Margherita. "Mitochondrial DNA Multiple Deletion Syndromes, Autosomal Dominant and Recessive (POLG, POLG2, TWINKLE and ANT1)." In Mitochondrial Disorders Caused by Nuclear Genes. Springer New York, 2012. http://dx.doi.org/10.1007/978-1-4614-3722-2_8.

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"Autosomal Recessive Disorder." In Encyclopedia of Autism Spectrum Disorders. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-319-91280-6_300184.

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Schilsky, Michael L., and Pramod K. Mistry. "Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease." In Oxford Textbook of Medicine. Oxford University Press, 2010. http://dx.doi.org/10.1093/med/9780199204854.003.120702.

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Copper is an essential metal that is an important cofactor for many proteins and enzymes. Two related genetic defects in copper transport have been described. An uncommon disorder (1 in 30 000) caused by autosomal recessive loss of function mutations in a metal-transporting P-type ATPase (...
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Spranger, Jürgen W., Paula W. Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, and Sheila Unger. "Dense Bone Dysplasias with Meta-Diaphyseal Modeling Defects." In Bone Dysplasias. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190626655.003.0017.

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This chapter discusses dense bone dysplasias with meta-diaphyseal modeling defects and includes discussion on Blomstrand chondrodysplasia, infantile cortical hyperostosis, dysplastic cortical hyperostosis type Kozlowski-Tsuruta, three conditions presenting in the pre- or perinatal period, osteoectasia with hyperphosphatasia, endosteal hyperostosis (Van Buchem type), Camurati-Engelmann disease, Ghosal hematodiaphyseal dysplasia, Lenz-Majewski hyperostotic dysplasia, hypertrophic osteoarthropathy (autosomal recessive), pachydermoperiostosis (autosomal dominant), sclerosteo-cerebellar syndrome, craniodiaphyseal dysplasia, craniometaphyseal dysplasia, craniometadiaphyseal dysplasia wormian bone type, Pyle disease, metaphyseal dysplasia (Braun-Tinschert type), oculodentoosseo dysplasia, tricho-dento-osseous dysplasia, and diaphyseal medullary stenosis with bone malignancy. Each discussion includes major radiographic features, major clinical findings, genetics, discussions on the course of the disorder, appropriate investigations and potential treatment, major differential diagnoses, and a bibliography.
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Balzano, Tiziano, and Omar El Hiba. "Metal Toxicity and Brain-Liver Axis." In Advances in Environmental Engineering and Green Technologies. IGI Global, 2019. http://dx.doi.org/10.4018/978-1-5225-7775-1.ch011.

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The liver is the main detoxifier organ of the body. When normal liver function is compromised, other systems in the body can be affected, including the brain. Hepatocerebral disorder is the term used to describe some neuropsychiatric conditions that result from liver failure and characterized by the accumulation of these toxic metals in brain. Examples of such disorders are Wilson's disease (WD), an autosomal recessive disorder that is characterized by the deposition of copper in liver and brain tissues and acquired (non-Wilsonian) hepatocerebral degeneration (AHCD), a complication that occurs most frequently in patients with hepatic coma or that suffered multiple episodes of severe HE. AHCD is characterized by accumulation in brain of manganese. This chapter will focus on the crucial importance of relationship between liver and brain functioning and on the effects produced when this relationship is compromised. Specifically, the chapter will discuss on the physiopathology of WD and AHCD and on the role that toxic metals play on neurological symptoms in such disorders.
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Conference papers on the topic "Autosomal recessive disorder"

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Kambouris, Marios, Hibah Shaath, Abeer Fadda, et al. "OFD1 Missense Mutation Causes an Autosomal Recessive Dyskeratosis Congenita-Like Disorder Further Complicating the Clinical Heterogeneity of OFD1 Mutations." In Qatar Foundation Annual Research Conference Proceedings. Hamad bin Khalifa University Press (HBKU Press), 2016. http://dx.doi.org/10.5339/qfarc.2016.hbpp2575.

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Sánchez-Albisua, Iciar, Nuria Brämswig, Adela Marina, et al. "P 308. Autosomal Recessive Mutations in the NALCN Gene: A Rare Cause of a Severe Developmental Disorder with Facial Dysmorphia, Epilepsy and Cheyne–Stokes/Biot’s Respiration with Central Apneas." In Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2018. http://dx.doi.org/10.1055/s-0038-1675994.

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Surya, I. E., and J. W. N. Akkerman. "HUMAN PLASMA PAF-ACETYLHYDROLASE, NORMALLY PRESENT IN LOW DENSITY LIPOPROTEINS, IS ASSOCIATED WITH HIGH DENSITY LIPOPROTEINS IN A PATIENT WITH LDL DEFICIENCY." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1642882.

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Platelet Activating Factor (l-0-alkyl-2-acetyl-sn-glycerol-3-phosphocholine; PAF) plays an important role in allergic and inflammatory reactions and activates platelets in the nanomolar range. One of the main factors that controls PAF activity in blood is an enzyme that hydrolyzes the acetyl-chain thereby converting PAF to biologically inactive lyso-PAF. The enzyme is acid labile and normally associated with apo B-containing low density lipoproteins (LDL, density 1,006-1,063 g/ml).We investigated whether a deficiency in LDL would affect the enzyme activity. PAF-inactivating activity was measur
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Wu, Q. Y., B. R. Bahnak, L. Coulombel, J. P. Caen, G. Pietu, and D. Meyer. "VON WILLEBRAND FACTOR mRNA IS SEVERELY REDUCED IN PIGS WITH HOMOZYGOUS VON WILLEBRAND DISEASE." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644113.

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Porcine von Willebrand disease (vWD), an autosomal recessive disorder, is similar to some of the severe forms of vWD in humans and is characterized by a prolonged bleeding time and very low or undetectable amounts of von Willebrand factor (vWF) antigen and activity in plasma, platelets and endothelial cells. The molecular events that control the lack of expression of vWF in the vWD pigs is not known and could be at the transcriptional or post-transcriptional level. Lungs from normal and two homozygous vWD pigs were extracted immediately after harvesting of the animals and placed on dry ice. Ti
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